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X-linked myopathy with excessive autophagy
Summary
- Synonym
-
- XMEA
- Definition
- A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
- Super Class
- X-linked recessive disease myopathy
External Links
- Disease Ontology
- DOID:0050760
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11217 | Glycogen phosphorylase, muscle form |
